Description of Disorder:
- Friedrich's Ataxia is an inhertied disease that causes damage to the nervous system. The disease was named after the physican Nicholas Friedrich, who had first described the disease in the 1860s."Ataxia" refers to the problems of Friedrich's Ataxia, such as clumsy or awkward movement and steadiness. The results of Friedrich's Ataxia are because of the degeneration of nerves that control muscle movement in the arms and legs. Nerve cells lose some of the myelin sheath(the insular covering on all nerve cells that helps conduct nerve impulses) and the spinal cord becomes thinner.
Inheritance Pattern:
-Friedrich's Axtaxia is inherited if a patient has receive two abnormal genes but if the person has only receive one abnormal gene then they are a carrier. Friedrich's Ataxia is a autosomal receive disease.1 to 90 Americans of European ancestry carries one affected gene. It is excluded from chromosome 19.
Symptoms:
-Symptoms usually start at the ages of 5 to 15, as early as 18 months and as late as 50 years. First symptoms are difficulty in walking or gait ataxia, its starts to get worst and spreads to the arm and the trunk. Clubfoot, flexion of the toes, hammar toes, or foot inversion can be early signs in the feet. Over time muscles start to weaken and waste away, mostly in feet, lower legs, and hands. Most people with Friedrich's Ataxia develop scoliosis(a curving of the spine to one side).Also hearing loss, abnormal speech, decrease in ability to feel vibrations in lower limbs, and jerky eye movements.
Treatment / Prognosis:
-There is no cure for Friedrich's Ataxia. But patients can be treated to maintain functional as long as they can. Problems with the foot and scoliosis can be treated with braces and surgery. Most patients need a wheelchair within 15 years. Friedrich's Ataxia leds to early .There are support groups, in Septmber of 1997 Friedrich's Ataxia parents started to send out information to homes talking about Friedrich's Ataxia disease. There are also genetic counsolers that will talk to the patient and the family about Friedrich's Ataxia disease.
Incidence / Frequency:
-About 1 in every 20,000 to 29,000 develop Friedrich's Ataxia disease. Europeans ancestry are affected more than anyone.
Discussion Questions:
1.Who waas Friedrich Ataxia name after? And what did he do?
2.What is the lates age a person can start to realize they have Friedrich's Ataxia?
3.What is a patient with Friedrich's Ataxia missing?
Description of Disorder:
- Friedrich's Ataxia is an inhertied disease that causes damage to the nervous system. The disease was named after the physican Nicholas Friedrich, who had first described the disease in the 1860s."Ataxia" refers to the problems of Friedrich's Ataxia, such as clumsy or awkward movement and steadiness. The results of Friedrich's Ataxia are because of the degeneration of nerves that control muscle movement in the arms and legs. Nerve cells lose some of the myelin sheath(the insular covering on all nerve cells that helps conduct nerve impulses) and the spinal cord becomes thinner.
Inheritance Pattern:
-Friedrich's Axtaxia is inherited if a patient has receive two abnormal genes but if the person has only receive one abnormal gene then they are a carrier. Friedrich's Ataxia is a autosomal receive disease.1 to 90 Americans of European ancestry carries one affected gene. It is excluded from chromosome 19.
Symptoms:
-Symptoms usually start at the ages of 5 to 15, as early as 18 months and as late as 50 years. First symptoms are difficulty in walking or gait ataxia, its starts to get worst and spreads to the arm and the trunk. Clubfoot, flexion of the toes, hammar toes, or foot inversion can be early signs in the feet. Over time muscles start to weaken and waste away, mostly in feet, lower legs, and hands. Most people with Friedrich's Ataxia develop scoliosis(a curving of the spine to one side).Also hearing loss, abnormal speech, decrease in ability to feel vibrations in lower limbs, and jerky eye movements.
Treatment / Prognosis:
-There is no cure for Friedrich's Ataxia. But patients can be treated to maintain functional as long as they can. Problems with the foot and scoliosis can be treated with braces and surgery. Most patients need a wheelchair within 15 years. Friedrich's Ataxia leds to early .There are support groups, in Septmber of 1997 Friedrich's Ataxia parents started to send out information to homes talking about Friedrich's Ataxia disease. There are also genetic counsolers that will talk to the patient and the family about Friedrich's Ataxia disease.
Incidence / Frequency:
-About 1 in every 20,000 to 29,000 develop Friedrich's Ataxia disease. Europeans ancestry are affected more than anyone.
Discussion Questions:
1.Who waas Friedrich Ataxia name after? And what did he do?
2.What is the lates age a person can start to realize they have Friedrich's Ataxia?
3.What is a patient with Friedrich's Ataxia missing?
Work Cited:
http://www.ninds.nih.gov/disorders/friedreichs_ataxia/detail_friedreichs_ataxia.htm
http://health.kosmix.com/topic/Pictures_Of_Friedreich_S_Ataxia?p=hl&as=yhoo&ac=485
http://www.fortnet.org/fapg
http://www.springerlink.com/content/1427101558306406/
https://health.google.com/health/ref/Friedrich's+ataxia
http://www.squidoo.com/friedrich'sataxia